MRI pattern approach of adult-onset inherited leukoencephalopathies

por Labauge, Pierre, Carra-Dalliere, Clarisse, Menjot de Champfleur, Nicolas, Ayrignac, Xavier, Boespflug-Tanguy, Odile
Publicado en Neurol Clin Pract (2014)

CSF N-Glycan Profiles to Investigate Biomarkers in Brain Developmental Disorders: Application to Leukodystrophies Related to eIF2B Mutations

por Fogli, Anne, Merle, Christine, Roussel, Véronique, Schiffmann, Raphael, Ughetto, Sylvie, Theisen, Manfred, Boespflug-Tanguy, Odile
Publicado 2012

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease

por Yamanaka, Koji, Vande Velde, Christine, Eymard-Pierre, Eleonore, Bertini, Enrico, Boespflug-Tanguy, Odile, Cleveland, Don W.
Publicado 2003

Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients

por Horzinski, Laetitia, Kantor, Liraz, Huyghe, Aurélia, Schiffmann, Raphael, Elroy-Stein, Orna, Boespflug-Tanguy, Odile, Fogli, Anne
Publicado 2010

Neurodegenerative Disorder Related to AIMP1/p43 Mutation Is Not a PMLD

por Boespflug-Tanguy, Odile, Aubourg, Patrick, Dorboz, Imen, Bégou, Mélina, Giraud, Geneviève, Sarret, Catherine, Vaurs-Barrière, Catherine
Publicado 2011

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report

por Karkar, Adnane, Barakat, Abdelhamid, Bakhchane, Amina, Fettah, Houda, Slassi, Ilham, Dorboz, Imen, Boespflug-Tanguy, Odile, Nadifi, Sellama
Publicado en BMC Neurol (2015)

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

por Eymard-Pierre, Eleonore, Lesca, Gaetan, Dollet, Sandra, Santorelli, Filippo Maria, di Capua, Matteo, Bertini, Enrico, Boespflug-Tanguy, Odile
Publicado 2002

Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases

por Mochel, Fanny, Boildieu, Nadège, Barritault, Julie, Sarret, Catherine, Eymard-Pierre, Eleonore, Seguin, François, Schiffmann, Raphael, Boespflug-Tanguy, Odile
Publicado 2010

Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure

por Fogli, Anne, Gauthier-Barichard, Fernande, Schiffmann, Raphael, Vanderhoof, Vien H, Bakalov, Vladimir K, Nelson, Lawrence M, Boespflug-Tanguy, Odile
Publicado 2004

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

por Marchionni, Enrica, Méneret, Aurélie, Keren, Boris, Melki, Judith, Denier, Christian, Durr, Alexandra, Apartis, Emmanuelle, Boespflug-Tanguy, Odile, Mochel, Fanny
Publicado en Tremor Other Hyperkinet Mov (N Y) (2019)

Dramatic efficacy of ofatumumab in refractory pediatric-onset AQP4-IgG neuromyelitis optica spectrum disorder

por Maillart, Elisabeth, Renaldo, Florence, Papeix, Caroline, Deiva, Kumaran, Bonheur, Julie, Kwon, Teresa, Boespflug-Tanguy, Odile, Germanaud, David, Marignier, Romain
Publicado en Neurol Neuroimmunol Neuroinflamm (2020)

Eukaryotic Initiation Factor 2B (eIF2B) GEF Activity as a Diagnostic Tool for EIF2B-Related Disorders

por Horzinski, Laetitia, Huyghe, Aurélia, Cardoso, Marie-Céleste, Gonthier, Céline, Ouchchane, Lemlih, Schiffmann, Raphael, Blanc, Pierre, Boespflug-Tanguy, Odile, Fogli, Anne
Publicado 2009

Developmental Splicing Deregulation in Leukodystrophies Related to EIF2B Mutations

por Huyghe, Aurélia, Horzinski, Laetitia, Hénaut, Alain, Gaillard, Marina, Bertini, Enrico, Schiffmann, Raphael, Rodriguez, Diana, Dantal, Yann, Boespflug-Tanguy, Odile, Fogli, Anne
Publicado 2012

Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project

por Darquy, Sylviane, Moutel, Grégoire, Lapointe, Anne-Sophie, D'Audiffret, Diane, Champagnat, Julie, Guerroui, Samia, Vendeville, Marie-Louise, Boespflug-Tanguy, Odile, Duchange, Nathalie
Publicado en Eur J Hum Genet (2016)

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

por Dorboz, Imen, Coutelier, Marie, Bertrand, Anne T, Caberg, Jean-Hubert, Elmaleh-Bergès, Monique, Lainé, Jeanne, Stevanin, Giovanni, Bonne, Gisèle, Boespflug-Tanguy, Odile, Servais, Laurent
Publicado en Orphanet J Rare Dis (2014)

Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

por Fogli, Anne, Rodriguez, Diana, Eymard-Pierre, Eléonore, Bouhour, Françoise, Labauge, Pierre, Meaney, Brandon F., Zeesman, Susan, Kaneski, Christine R., Schiffmann, Raphael, Boespflug-Tanguy, Odile
Publicado 2003

New spastic paraplegia phenotype associated to mutation of NFU1

por Tonduti, Davide, Dorboz, Imen, Imbard, Apolline, Slama, Abdelhamid, Boutron, Audrey, Pichard, Samia, Elmaleh, Monique, Vallée, Louis, Benoist, Jean François, Ogier, Heléne, Boespflug-Tanguy, Odile
Publicado en Orphanet J Rare Dis (2015)

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

por Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
Publicado en Mol Genet Metab Rep (2016)

Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

por Sarret, Catherine, Ashkavand, Zahra, Paules, Evan, Dorboz, Imen, Pediaditakis, Peter, Sumner, Susan, Eymard-Pierre, Eléonore, Francannet, Christine, Krupenko, Natalia I., Boespflug-Tanguy, Odile, Krupenko, Sergey A.
Publicado en NPJ Genom Med (2019)

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

por Trimouille, Aurélien, Marguet, Florent, Sauvestre, Fanny, Lasseaux, Eulalie, Pelluard, Fanny, Martin-Négrier, Marie-Laure, Plaisant, Claudio, Rooryck, Caroline, Lacombe, Didier, Arveiler, Benoît, Boespflug-Tanguy, Odile, Naudion, Sophie, Laquerrière, Annie
Publicado en Acta Neuropathol Commun (2020)